Abstract
ObjectivesThis cross-sectional study aimed to investigate the influence of haplotypes, alpha-gene status and UGTA1 polymorphism on the severity of sickle cell disease in children.MethodsThis cross-sectional study was conducted between 2012 and 2014 at the Cayenne Hospital, in French Guiana. Acute clinical complications were grouped into (i) severe SCD defined by the presence of stroke and/or abnormal-transcranial Doppler (TCD), (ii) moderate SCD defined by the presence of at least three annual events requiring hospitalization and/or at least one acute chest syndrome, (iii) no severe SCD (in the absence of the precited events).ResultsAmong the 86 patients, 33.7% were female with a median age of 10 years (range: 6–12 years). The vast majority of patients had SCA (HbSS) phenotype (74.4%; n = 64). The severe haplotype was found in 40% of patients. 30% were BEN/BEN. Analysis of α-globin gene deletions revealed that 32 patients (37.2%) were heterozygous (loss of 2 genes in 2 cases and loss of 1 gene in 30 cases) for α-thalassemia (3.7 kb deletion). Homozygous (TA) n TA7/7 was found in 24 (28%). In the multivariate analysis, the factors associated with the severity of sickle cell disease were the first vaso-occlusive crisis before one year of age (OR 25, [95% CI = 6.0–107.0], p<0.001) and a baseline MCV >80 fL (OR 0.20 [95% CI = 0.04–0.96], p = 0.04). The area of the ROC curve was 0.90.ConclusionProspective studies with greater statistical power would provide more knowledge on the relationship between UGT1A1 mutations and the clinical and hematological manifestations of SCA.
Highlights
French Guiana is an overseas French territory located in South America, situated on the northeastern coast of South America
Analysis of α-globin gene deletions revealed that 32 patients (37.2%) were heterozygous for α-thalassemia (3.7 kb deletion)
The factors associated with the severity of sickle cell disease were the first vaso-occlusive crisis before one year of age and a baseline MCV >80 fL
Summary
French Guiana is an overseas French territory located in South America (capital town: Cayenne), situated on the northeastern coast of South America. French Guiana is bounded by the Amapa state of Brazil to the south and east and the Atlantic Ocean to the north east. The Maroni River forms the French Guiana–Suriname border in the west. The 2015 population in this region was approximately 250,377 people [1]; around 40 percent of the population lives in the capital. The population is composed of people of mixed African and French ancestry (Creoles), with minorities of metropolitan French, Brazilians, Surinamese, Haitians and other Caribbeans, Chinese and Laotians and the Maroon community. Maroons (or Bushinengue) are descendent from African slaves who escaped (marooned) from the plantations of the current Suriname, a Dutch colony at the time of the slave trade and who banded together and build their own settlements
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